UGT2B4 (UDP glucuronosyltransferase family 2 member B4)

Gene

• Entrez ID: 7363
• Gene name: UDP glucuronosyltransferase family 2 member B4
• Gene symbol: UGT2B4
• Synonyms (NCBI Gene): HLUG25, UDPGT2B4, UDPGTH1, UDPGTh-1, UGT2B11
• Chromosome: 4
• Chromosome location: 4q13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017601	hsa-miR-335-5p	Microarray	18185580
MIRT707488	hsa-miR-4704-5p	HITS-CLIP	19536157
MIRT714486	hsa-miR-512-5p	HITS-CLIP	19536157
MIRT714485	hsa-miR-510-5p	HITS-CLIP	19536157
MIRT504581	hsa-miR-5011-5p	HITS-CLIP	19536157
MIRT714484	hsa-miR-656-3p	HITS-CLIP	19536157
MIRT608966	hsa-miR-4789-5p	HITS-CLIP	19536157
MIRT504578	hsa-miR-190a-3p	HITS-CLIP	19536157
MIRT504582	hsa-miR-1277-5p	HITS-CLIP	19536157
MIRT711061	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711060	hsa-miR-567	HITS-CLIP	19536157
MIRT711059	hsa-miR-2117	HITS-CLIP	19536157
MIRT711058	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT711057	hsa-miR-297	HITS-CLIP	19536157
MIRT711056	hsa-miR-4273	HITS-CLIP	19536157
MIRT711055	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT544973	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT544972	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT544971	hsa-miR-603	HITS-CLIP	21572407
MIRT707488	hsa-miR-4704-5p	HITS-CLIP	21572407
MIRT707487	hsa-miR-4271	HITS-CLIP	21572407
MIRT707486	hsa-miR-4725-3p	HITS-CLIP	21572407
MIRT707485	hsa-miR-6780b-5p	HITS-CLIP	21572407
MIRT707484	hsa-miR-2110	HITS-CLIP	21572407
MIRT707483	hsa-miR-6810-5p	HITS-CLIP	21572407
MIRT707482	hsa-miR-3150a-3p	HITS-CLIP	21572407
MIRT707481	hsa-miR-6763-5p	HITS-CLIP	21572407
MIRT707480	hsa-miR-6857-5p	HITS-CLIP	21572407
MIRT707479	hsa-miR-450a-2-3p	HITS-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT518098	hsa-miR-4318	HITS-CLIP	21572407
MIRT518097	hsa-miR-892a	HITS-CLIP	21572407
MIRT504581	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504580	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT504579	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT518096	hsa-miR-4693-5p	HITS-CLIP	21572407
MIRT504578	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504577	hsa-miR-433-3p	HITS-CLIP	21572407
MIRT504576	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT542225	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT504579	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT504576	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT504581	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504580	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT504578	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504577	hsa-miR-433-3p	HITS-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT542225	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT608965	hsa-miR-568	HITS-CLIP	23824327
MIRT608964	hsa-miR-3149	HITS-CLIP	23824327
MIRT608963	hsa-miR-4455	HITS-CLIP	23824327
MIRT504579	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT608967	hsa-miR-8068	HITS-CLIP	24906430
MIRT608966	hsa-miR-4789-5p	HITS-CLIP	24906430
MIRT608965	hsa-miR-568	HITS-CLIP	24906430
MIRT608964	hsa-miR-3149	HITS-CLIP	24906430
MIRT608963	hsa-miR-4455	HITS-CLIP	24906430
MIRT504576	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT542225	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT504576	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT564010	hsa-miR-541-5p	PAR-CLIP	20371350
MIRT564009	hsa-miR-2392	PAR-CLIP	20371350
MIRT564008	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT564007	hsa-miR-193b-5p	PAR-CLIP	20371350
MIRT564006	hsa-miR-3170	PAR-CLIP	20371350
MIRT564005	hsa-miR-6855-5p	PAR-CLIP	20371350
MIRT551500	hsa-miR-8066	PAR-CLIP	21572407
MIRT542225	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT518098	hsa-miR-4318	PAR-CLIP	21572407
MIRT518097	hsa-miR-892a	PAR-CLIP	21572407
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504580	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT518096	hsa-miR-4693-5p	PAR-CLIP	21572407
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504577	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT504576	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT544974	hsa-miR-8485	PAR-CLIP	21572407
MIRT544973	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT544972	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT544971	hsa-miR-603	PAR-CLIP	21572407
MIRT544970	hsa-miR-4643	PAR-CLIP	21572407
MIRT544969	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT544968	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT544967	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT544966	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT544965	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT544964	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT544963	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT544962	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT544961	hsa-miR-646	PAR-CLIP	21572407
MIRT544960	hsa-miR-3941	PAR-CLIP	21572407
MIRT544959	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT544958	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT544957	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT542225	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504580	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504577	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT504576	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT518098	hsa-miR-4318	PAR-CLIP	23446348
MIRT518097	hsa-miR-892a	PAR-CLIP	23446348
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504580	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT518096	hsa-miR-4693-5p	PAR-CLIP	23446348
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504577	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT504576	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504580	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504577	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504580	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504577	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT504576	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT707488	hsa-miR-4704-5p	HITS-CLIP	19536157
MIRT714486	hsa-miR-512-5p	HITS-CLIP	19536157
MIRT714485	hsa-miR-510-5p	HITS-CLIP	19536157
MIRT504581	hsa-miR-5011-5p	HITS-CLIP	19536157
MIRT714484	hsa-miR-656-3p	HITS-CLIP	19536157
MIRT608966	hsa-miR-4789-5p	HITS-CLIP	19536157
MIRT504578	hsa-miR-190a-3p	HITS-CLIP	19536157
MIRT504582	hsa-miR-1277-5p	HITS-CLIP	19536157
MIRT711061	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT711060	hsa-miR-567	HITS-CLIP	19536157
MIRT711059	hsa-miR-2117	HITS-CLIP	19536157
MIRT711058	hsa-miR-1229-3p	HITS-CLIP	19536157
MIRT711057	hsa-miR-297	HITS-CLIP	19536157
MIRT711056	hsa-miR-4273	HITS-CLIP	19536157
MIRT711055	hsa-miR-7156-5p	HITS-CLIP	19536157
MIRT544973	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT544972	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT544971	hsa-miR-603	HITS-CLIP	21572407
MIRT707488	hsa-miR-4704-5p	HITS-CLIP	21572407
MIRT707487	hsa-miR-4271	HITS-CLIP	21572407
MIRT707486	hsa-miR-4725-3p	HITS-CLIP	21572407
MIRT707485	hsa-miR-6780b-5p	HITS-CLIP	21572407
MIRT707484	hsa-miR-2110	HITS-CLIP	21572407
MIRT707483	hsa-miR-6810-5p	HITS-CLIP	21572407
MIRT707482	hsa-miR-3150a-3p	HITS-CLIP	21572407
MIRT707481	hsa-miR-6763-5p	HITS-CLIP	21572407
MIRT707480	hsa-miR-6857-5p	HITS-CLIP	21572407
MIRT707479	hsa-miR-450a-2-3p	HITS-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT518098	hsa-miR-4318	HITS-CLIP	21572407
MIRT518097	hsa-miR-892a	HITS-CLIP	21572407
MIRT504581	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504580	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT504579	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT518096	hsa-miR-4693-5p	HITS-CLIP	21572407
MIRT504578	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504577	hsa-miR-433-3p	HITS-CLIP	21572407
MIRT504576	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT542225	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT504579	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT504576	hsa-miR-574-5p	HITS-CLIP	21572407
MIRT504581	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT504580	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT504578	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT504577	hsa-miR-433-3p	HITS-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT542225	hsa-miR-511-3p	HITS-CLIP	23824327
MIRT608965	hsa-miR-568	HITS-CLIP	23824327
MIRT608964	hsa-miR-3149	HITS-CLIP	23824327
MIRT608963	hsa-miR-4455	HITS-CLIP	23824327
MIRT542225	hsa-miR-511-3p	PAR-CLIP	20371350
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	20371350
MIRT504576	hsa-miR-574-5p	PAR-CLIP	20371350
MIRT564010	hsa-miR-541-5p	PAR-CLIP	20371350
MIRT564009	hsa-miR-2392	PAR-CLIP	20371350
MIRT564008	hsa-miR-6890-5p	PAR-CLIP	20371350
MIRT564007	hsa-miR-193b-5p	PAR-CLIP	20371350
MIRT564006	hsa-miR-3170	PAR-CLIP	20371350
MIRT564005	hsa-miR-6855-5p	PAR-CLIP	20371350
MIRT551500	hsa-miR-8066	PAR-CLIP	21572407
MIRT542225	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT518098	hsa-miR-4318	PAR-CLIP	21572407
MIRT518097	hsa-miR-892a	PAR-CLIP	21572407
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504580	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT518096	hsa-miR-4693-5p	PAR-CLIP	21572407
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504577	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT504576	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT544974	hsa-miR-8485	PAR-CLIP	21572407
MIRT544973	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT544972	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT544971	hsa-miR-603	PAR-CLIP	21572407
MIRT544970	hsa-miR-4643	PAR-CLIP	21572407
MIRT544969	hsa-miR-15a-5p	PAR-CLIP	21572407
MIRT544968	hsa-miR-15b-5p	PAR-CLIP	21572407
MIRT544967	hsa-miR-16-5p	PAR-CLIP	21572407
MIRT544966	hsa-miR-195-5p	PAR-CLIP	21572407
MIRT544965	hsa-miR-424-5p	PAR-CLIP	21572407
MIRT544964	hsa-miR-497-5p	PAR-CLIP	21572407
MIRT544963	hsa-miR-6838-5p	PAR-CLIP	21572407
MIRT544962	hsa-miR-503-5p	PAR-CLIP	21572407
MIRT544961	hsa-miR-646	PAR-CLIP	21572407
MIRT544960	hsa-miR-3941	PAR-CLIP	21572407
MIRT544959	hsa-miR-4524a-5p	PAR-CLIP	21572407
MIRT544958	hsa-miR-4524b-5p	PAR-CLIP	21572407
MIRT544957	hsa-miR-513b-5p	PAR-CLIP	21572407
MIRT542225	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT504580	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT504577	hsa-miR-433-3p	PAR-CLIP	21572407
MIRT504576	hsa-miR-574-5p	PAR-CLIP	21572407
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT518098	hsa-miR-4318	PAR-CLIP	23446348
MIRT518097	hsa-miR-892a	PAR-CLIP	23446348
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504580	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT518096	hsa-miR-4693-5p	PAR-CLIP	23446348
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504577	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT504576	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504580	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504577	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504582	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT504581	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT504580	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT504579	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT504578	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT504577	hsa-miR-433-3p	PAR-CLIP	23446348
MIRT504576	hsa-miR-574-5p	PAR-CLIP	23446348
MIRT1473654	hsa-miR-2052	CLIP-seq
MIRT1473655	hsa-miR-3065-5p	CLIP-seq
MIRT1473656	hsa-miR-4307	CLIP-seq
MIRT1473657	hsa-miR-4457	CLIP-seq
MIRT1473658	hsa-miR-488	CLIP-seq
MIRT1473659	hsa-miR-513b	CLIP-seq
MIRT1473660	hsa-miR-516a-3p	CLIP-seq
MIRT1473661	hsa-miR-944	CLIP-seq
MIRT1473656	hsa-miR-4307	CLIP-seq
MIRT1473654	hsa-miR-2052	CLIP-seq
MIRT1473655	hsa-miR-3065-5p	CLIP-seq
MIRT1473656	hsa-miR-4307	CLIP-seq
MIRT1473658	hsa-miR-488	CLIP-seq
MIRT1473660	hsa-miR-516a-3p	CLIP-seq
MIRT2462869	hsa-miR-2115	CLIP-seq
MIRT2462870	hsa-miR-3940-5p	CLIP-seq
MIRT2462871	hsa-miR-4507	CLIP-seq
MIRT2462872	hsa-miR-629	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NR1H4	Repression	12806625

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001972	Function	Retinoic acid binding	IDA	20308471
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006805	Process	Xenobiotic metabolic process	IDA	20056724
GO:0008194	Function	UDP-glycosyltransferase activity	IEA
GO:0008210	Process	Estrogen metabolic process	IBA
GO:0008210	Process	Estrogen metabolic process	IDA	18719240
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0015020	Function	Glucuronosyltransferase activity	IDA	18052087, 18719240, 20056724
GO:0015020	Function	Glucuronosyltransferase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA

Other IDs

• MIM: 600067
• HGNC: 12553
• e!Ensembl: ENSG00000156096

Protein

• UniProt ID: P06133
• Protein name: UDP-glucuronosyltransferase 2B4 (UDPGT 2B4) (UGT2B4) (EC 2.4.1.17) (HLUG25) (Hyodeoxycholic acid-specific UDPGT) (UDPGTh-1)
• Protein function: UDP-glucuronosyltransferase (UGT) that catalyzes phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase the metabolite's water solubility, thereby facilitating excretion into either th
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00201	UDPGT	24 → 525	UDP-glucoronosyl and UDP-glucosyl transferase	Family

• Sequence:

  MSMKWTSALLLIQLSCYFSSGSCGKVLVWPTEFSHWMNIKTILDELVQRGHEVTVLASSA
  SISFDPNSPSTLKFEVYPVSLTKTEFEDIIKQLVKRWAELPKDTFWSYFSQVQEIMWTFN
  DILRKFCKDIVSNKKLMKKLQESRFDVVLADAVFPFGELLAELLKIPFVYSLRFSPGYAI
  EKHSGGLLFPPSYVPVVMSELSDQMTFIERVKNMIYVLYFEFWFQIFDMKKWDQFYSEVL
  GRPTTLSETMAKADIWLIRNYWDFQFPHPLLPNVEFVGGLHCKPAKPLPKEMEEFVQSSG
  ENGVVVFSLGSMVSNTSEERANVIASALAKIPQKVLWRFDGNKPDTLGLNTRLYKWIPQN
  DLLGHPKTRAFITHGGANGIYEAIYHGIPMVGVPLFADQPDNIAHMKAKGAAVSLDFHTM
  SSTDLLNALKTVINDPLYKENAMKLSRIHHDQPVKPLDRAVFWIEFVMRHKGAKHLRVAA
  HDLTWFQYHSLDVTGFLLACVATVIFIITKCLFCVWKFVRTGKKGKRD

• Sequence length: 528

Pathways

KEGG:

Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Steroid hormone biosynthesis
Retinol metabolism
Porphyrin metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Drug metabolism - other enzymes
Metabolic pathways
Biosynthesis of cofactors
Bile secretion
Chemical carcinogenesis - DNA adducts
Chemical carcinogenesis - receptor activation

Reactome:

Glucuronidation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT EPITHELIAL TUMOR OF OVARY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	21660508, 27282283		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20617168, 21660508	Associate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	21526375, 25798860		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	25798860	Inhibit	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	25948711	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27662660	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	22367021	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	22367021	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	28233865		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	31290452		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	10519413, 28389526		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21660508, 27282283		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28389526		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15318931		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31562685		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39457450	Associate	★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	17696930		★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	20617168	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22367021		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28233865		★☆☆☆☆ Found in Text Mining only